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Researcher
Sarah Naessens
Profile
Projects
Publications
Activities
Awards & Distinctions
24
Results
2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Miriam Bauwens
Alejandro Garanto
Riccardo Sangermano
Sarah Naessens
Nicole Weisschuh
Julie De Zaeytijd
Mubeen Khan
Françoise Sadler
Irina Balikova
Caroline Van Cauwenbergh
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2019
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
Sarah Naessens
Rob W Collin
Frauke Coppieters
Miriam Bauwens
Lonneke Duijkers
Irina Balikova
Bart Leroy
Elfride De Baere
Alex Garanto
C3
Conference
2019
Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa
Sarah Naessens
Laurien Ruysschaert
Steve Lefever
Frauke Coppieters
Elfride De Baere
A1
Journal Article
in
GENES
2019
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
Miriam Bauwens
Sarah Naessens
Caroline Van Cauwenbergh
Thalia Van Laethem
Sarah De Jaegere
Irina Balikova
Yves Sznajer
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conference
2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano
Alejandro Garanto
Mubeen Khan
Esmee H Runhart
Miriam Bauwens
Nathalie M Bax
L Ingeborgh van den Born
Muhammad Imran Khan
Stéphanie S Cornelis
Joke BGM Verheij
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2019
Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases
Sarah Naessens
Elfride De Baere
Frauke Coppieters
Dissertation
2019
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
Sarah Naessens
Julie De Zaeytijd
Delfien Syx
Roosmarijn Vandenbroucke
Frédéric Smeets
Caroline Van Cauwenbergh
Bart Leroy
Frank Peelman
Frauke Coppieters
A1
Journal Article
in
HUMAN MUTATION
2019
2018
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
Sarah Naessens
Alejandro Garanto
Frauke Coppieters
Miriam Bauwens
Irina Balikova
Bart Leroy
Silvia Albert
Rob Collin
Elfride De Baere
C3
Conference
2018
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conference
2018
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
Sarah Naessens
Delfien Syx
Frank Peelman
Roosmarijn Vandenbroucke
Sarah De Jaegere
Frédéric Smeets
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conference
2018
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Nuria Gruartmoner Roura
Marjolein Carron
Katharina Dannhausen
Sarah De Jaegere
Maxim Vanpanteghem
Frauke Coppieters
Marcus Karlstetter
et al.
C3
Conference
2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2018
2017
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conference
2017
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conference
2017
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Nuria Gruartmoner Roura
Marjolein Carron
Katharina Dannhausen
Sarah De Jaegere
Maxim Vanpanteghem
Frauke Coppieters
Marcus Karlstetter
et al.
C3
Conference
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
C3
Conference
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anne Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
C3
Conference
2017
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conference
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conference
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conference
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conference
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conference
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conference
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conference
2016